Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082

2009

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082

2009

dbSNP: rs876659443
rs876659443
G 0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082

2009

dbSNP: rs886041877
rs886041877
G 0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009

dbSNP: rs121909231
rs121909231
T 0.700 CausalMutation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007